Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
about
Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brainLocalization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeMolecular mechanisms in Angelman syndrome: a survey of 93 patients.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.Linkage analysis in familial Angelman syndrome.Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomyMolecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Understanding the pathogenesis of Angelman syndrome through animal modelsAngelman syndrome (AS, MIM 105830)Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
P2860
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P2860
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
@ast
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
@en
type
label
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
@ast
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
@en
prefLabel
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
@ast
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
@en
P2093
P2860
P1476
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
@en
P2093
P2860
P407
P577
1991-01-01T00:00:00Z